A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv705049



Internal ID15441701
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:102113751..102276919hg38UCSC Ensembl
Innerchr1:102579307..102742475hg19UCSC Ensembl
Innerchr1:102351895..102515063hg18UCSC Ensembl
Innerchr1:102291328..102454496hg17UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg38163169
hg19163169
hg18163169
hg17163169
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv528450
Supporting Variants
Samples
Known GenesMIR548AI
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv705049
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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